Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

por Bassett, Anne S., Marshall, Christian R., Lionel, Anath C., Chow, Eva W.C., Scherer, Stephen W.
Publicado 2008

Performance of case-control rare copy number variation annotation in classification of autism

por Engchuan, Worrawat, Dhindsa, Kiret, Lionel, Anath C, Scherer, Stephen W, Chan, Jonathan H, Merico, Daniele
Publicado 2015

Adult expression of a 3q13.31 microdeletion

por Lowther, Chelsea, Costain, Gregory, Melvin, Rebecca, Stavropoulos, Dimitri J, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S
Publicado 2014

Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia

por Mokhtar, Siti Shuhada, Marshall, Christian R., Phipps, Maude E., Thiruvahindrapuram, Bhooma, Lionel, Anath C., Scherer, Stephen W., Peng, Hoh Boon
Publicado 2014

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene

por Ghahramani Seno, Mohammad M, Kwan, Benjamin YM, Lee-Ng, Ka Ki M, Moessner, Rainald, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W
Publicado 2011

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

por Silversides, Candice K., Lionel, Anath C., Costain, Gregory, Merico, Daniele, Migita, Ohsuke, Liu, Ben, Yuen, Tracy, Rickaby, Jessica, Thiruvahindrapuram, Bhooma, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado 2012

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

por Noh, Hyun Ji, Ponting, Chris P., Boulding, Hannah C., Meader, Stephen, Betancur, Catalina, Buxbaum, Joseph D., Pinto, Dalila, Marshall, Christian R., Lionel, Anath C., Scherer, Stephen W., Webber, Caleb
Publicado 2013

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

por Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Waserman, Jack, Boyd, Kerry, Noor, Abdul, Speevak, Marsha, Stavropoulos, Dimitri J., Wei, John, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado 2017

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

por Prasad, Aparna, Merico, Daniele, Thiruvahindrapuram, Bhooma, Wei, John, Lionel, Anath C., Sato, Daisuke, Rickaby, Jessica, Lu, Chao, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget A., Marshall, Christian R., Hatchwell, Eli, Eis, Peggy S., Scherer, Stephen W.
Publicado 2012

Copy number variation in Han Chinese individuals with autism spectrum disorder

por Gazzellone, Matthew J, Zhou, Xue, Lionel, Anath C, Uddin, Mohammed, Thiruvahindrapuram, Bhooma, Liang, Shuang, Sun, Caihong, Wang, Jia, Zou, Mingyang, Tammimies, Kristiina, Walker, Susan, Selvanayagam, Thanuja, Wei, John, Wang, Zhuozhi, Wu, Lijie, Scherer, Stephen W
Publicado 2014

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

por Chénier, Sébastien, Yoon, Grace, Argiropoulos, Bob, Lauzon, Julie, Laframboise, Rachel, Ahn, Joo Wook, Ogilvie, Caroline Mackie, Lionel, Anath C, Marshall, Christian R, Vaags, Andrea K, Hashemi, Bita, Boisvert, Karine, Mathonnet, Géraldine, Tihy, Frédérique, So, Joyce, Scherer, Stephen W, Lemyre, Emmanuelle, Stavropoulos, Dimitri J
Publicado 2014

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

por Deneault, Eric, White, Sean H., Rodrigues, Deivid C., Ross, P. Joel, Faheem, Muhammad, Zaslavsky, Kirill, Wang, Zhuozhi, Alexandrova, Roumiana, Pellecchia, Giovanna, Wei, Wei, Piekna, Alina, Kaur, Gaganjot, Howe, Jennifer L., Kwan, Vickie, Thiruvahindrapuram, Bhooma, Walker, Susan, Lionel, Anath C., Pasceri, Peter, Merico, Daniele, Yuen, Ryan K.C., Singh, Karun K., Ellis, James, Scherer, Stephen W.
Publicado 2018

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

por Deneault, Eric, White, Sean H., Rodrigues, Deivid C., Ross, P. Joel, Faheem, Muhammad, Zaslavsky, Kirill, Wang, Zhuozhi, Alexandrova, Roumiana, Pellecchia, Giovanna, Wei, Wei, Piekna, Alina, Kaur, Gaganjot, Howe, Jennifer L., Kwan, Vickie, Thiruvahindrapuram, Bhooma, Walker, Susan, Lionel, Anath C., Pasceri, Peter, Merico, Daniele, Yuen, Ryan K.C., Singh, Karun K., Ellis, James, Scherer, Stephen W.
Publicado 2019

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

por Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
Publicado 2016

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

por Williams, Nigel M., Franke, Barbara, Mick, Eric, Anney, Richard J.L., Freitag, Christine M., Gill, Michael, Thapar, Anita, O'Donovan, Michael C., Owen, Michael J., Holmans, Peter, Kent, Lindsey, Middleton, Frank, Zhang-James, Yanli, Liu, Lu, Meyer, Jobst, Nguyen, Thuy Trang, Romanos, Jasmin, Romanos, Marcel, Seitz, Christiane, Renner, Tobias J., Walitza, Susanne, Warnke, Andreas, Palmason, Haukur, Buitelaar, Jan, Rommelse, Nanda, Vasquez, Alejandro Arias, Hawi, Ziarih, Langley, Kate, Sergeant, Joseph, Steinhausen, Hans-Christoph, Roeyers, Herbert, Biederman, Joseph, Zaharieva, Irina, Hakonarson, Hakon, Elia, Josephine, Lionel, Anath C., Crosbie, Jennifer, Marshall, Christian R., Schachar, Russell, Scherer, Stephen W., Todorov, Alexandre, Smalley, Susan L., Loo, Sandra, Nelson, Stanley, Shtir, Corina, Asherson, Philip, Reif, Andreas, Lesch, Klaus-Peter, Faraone, Stephen V.
Publicado 2012

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

por Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Publicado 2018

A genome-wide scan for common alleles affecting risk for autism

por Anney, Richard, Klei, Lambertus, Pinto, Dalila, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Sykes, Nuala, Pagnamenta, Alistair T., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chu, Su H., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Melhem, Nadine M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Devlin, Bernie, Ennis, Sean, Hallmayer, Joachim
Publicado 2010